Epilepsias generalizadas idiopáticas / Idiopathic generalized epilepsies

Resumen Las epilepsias generalizadas idiopáticas (EGI) son un grupo de epilepsias generalizadas edad de pendientes, subgrupo de las Epilepsias genéticas generalizadas(EGG), con hallazgos electro-clínicos característicos y herencia poligénica. Las EGI inclu yen las cuatro epilepsias generalizadas clásicas más comunes de las EGG: la epilepsia de ausencias de la infancia (EAI), epilepsia de ausencias juveniles (EAJ), epilepsia mioclónica juvenil (EMJ) y la epilepsia con crisis tónico clónicas generalizadas. Clínicamente caracterizadas por la presencia de una o una com binación de crisis de ausencias, mioclonías, tónica-clónicas omioclónica-tónica-clónicas con patrón elec troencefalográfico de punta onda lenta de 2.5 a 6cps y activación con la hiperventilación y fotoestimula ción, Sobresalen de las EGG por compartir atributos particulares como el buen pronóstico con control frecuente de las crisis, la no evolución a encefalopa tías epilépticas, frecuente superposición clínica entre las tres primeras, pudiendo evolucionar entre ellas; la probabilidad y edad de remisión varía en cada una.Más del 80% se controlan adecuadamente con medicamentos anticrisis de amplio espectro como el ácido valproico y pueden empeorar con bloqueadores de sodio o gabaérgicos. Si bien los pacientes son previamente sanos con neurodesarrollo normal, frecuentemente se asocian con trastornos del ánimo, déficit de atención e hiperactividad (TDAH) y problemas del aprendizaje pero no presentan déficit cognitivo. El reconocimiento de este grupo de EGI es importan te para el uso adecuado del recurso, evitando estudios innecesarios, adecuada orientación del pronóstico y un tratamiento óptimo.

Abstract Idiopathic generalized epilepsies (IGE) is a group of epilepsies age-dependent, a subgroup of EGG genetic generalized epilepsies, with electro-clinical features and polygenic inheritance. Four syndromes comprising the IGEs: childhood absence epilepsy (CAD), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and generalized tonic-clonic seizures epilepsy. Clinically characterized by the presence of one or a combination of absence seizures, myoclonus, tonic-clonic, or myoclonic-tonic-clonic with common electroencephalographic pat terns of 2.5-5.5 Hz generalized spike-wave and activated by hyperventilation or photic stimulation. They generally have a good prognosis for seizure control, not evolve to an epileptic encephalopathy. Frequent clinical overlap between the first three, being able to evolve between them; the probability and age of remission varies in each one. About 80% responding to broad-spectrum anti-seizure drugs such as valproic acid, may worsen with sodium or GABAergic blockers. Development is typically normal; however, they are frequently associated with mood disorders, attention-deficit/hyperactivity disorder (ADHD), and learning dis abilities, but do not have cognitive deficits. The recognition of this group of EGI is important for the adequate use of the resources, avoiding unnecessary studies, adequate orientation of the prognosis and an optimal treatment.

Facomatosis pigmentovascular cesioflammea asociada a epilepsia focal mioclónica: Primer caso reportado en el Perú / Phakomatosis pigmentovascularis cesioflammea associated with focal myoclonic seizures: First case report in Peru

Resumen La facomatosis pigmentovascular es un síndrome congénito muy poco frecuente, caracterizado por la presentación simultánea de una malformación vascular capilar y una lesión cutánea pigmentaria, con o sin compromiso extracutáneo. Se presenta el caso de una adolescente con epilepsia que cursa con crisis mioclónicas focales no controladas por un tratamiento farmacológico irregular, y que muestra además lesiones cutáneas compatibles con nevus flammeus y melanosis dérmica, ocular y palatina, presentes desde el nacimiento. Se trata del primer reporte en el país, de un síndrome neurocutáneo poco frecuente y de su asociación clínica con epilepsia, resaltándose además la importancia de una evaluación integral de esta entidad.

Summary Phacomatosis pigmentovascularis is a rare congenital syndrome, characterized by the simultaneous presentation of a capillary vascular malformation and a cutaneous pigmentary lesion, without or with extracutaneous involvement. The case of an adolescent with epilepsy characterized by focal myoclonic seizures uncontrolled by an irregular pharmacological treatment, with skin lesions compatible with nevus flammeus and dermal, ocular and palatal melanosis since birth, is presented. This is the first report in the country of an infrequent neurocutaneous syndrome and its clinical association with epilepsy, highlighting besides the importance of a comprehensive evaluation of this entity.

A study of clinical profile of intractable epilepsy in children

Background: This study was undertaken to find out the prevalence and clinical features of intractable epilepsy (IE) in a tertiary referral center.Methods: Study was conducted in a tertiary care hospital on 60 children with intractable epilepsy. Cases includes' intractable epilepsy is when seizures continue to occur despite maximally tolerated doses of more than two antiepileptics, occurrence of an average of one seizure per month for 18 months with no more than a 3 month seizure free period during these 18 months. Controls: epileptic children who had good control of seizures for the previous 18 months.Results: The prevalence of intractable seizures was 10% with maximum number of children 25 (41.6%) belonged to the 5-12 years. 15 (50%) children had daily seizures. Myoclonic seizures proved to be an important predictor of intractability. 4 children among the cases had history of family seizures, 6 children in cases had history febrile seizure, whereas, 6 children among the controls had history of family seizures, 8 children in controls had history febrile seizure.' 23.3% of children presented with Status epilepticus in the cases and 16.6% of the children in the controls. Remote symptomatic etiology 12(40%) is the commonest cause of seizure. 13 (43.3%) children in cases and 3 (10%) children among the controls had a history suggestive of birth asphyxia. EEG was abnormal in 17 (56.6%) cases when compared to 11 (36.6%) children in the controls. CT scan was abnormal in 14 (46.6%) cases and 10 (33.3%) controls. MRI was abnormal in 16 (53.3%) children of the cases and 8 (26.6%) children of the controls.Conclusions: The commonest cause of intractable epilepsy was perinatal asphyxia. Perinatal asphyxia can be prevented by good nutrition during pregnancy, regular antenatal check ups with detection of high risk pregnancy, promoting hospital deliveries and prompt resuscitation of newborn when required.

Antimyoclonic Effect of Levetiracetam and Clonazepam Combined Treatment on Myoclonic Epilepsy with Ragged-Red Fiber Syndrome with m.8344A>G Mutation / 中华医学杂志(英文版)

<p><b>Background</b>Treatment of myoclonic seizures in myoclonic epilepsy with ragged-red fibers (MERRFs) has been empirical and ineffective. Guideline on this disease is not available. Additional trials must be conducted to find more suitable treatments for it. In this study, the antimyoclonic effects of monotherapies, including levetiracetam (LEV), clonazepam (CZP), valproic acid (VPA), and topiramate (TPM) compared to combination therapy group with LEV and CZP on MERRF, were evaluated to find a more advantageous approach on the treatment of myoclonic seizures.</p><p><b>Methods</b>Treatments of myoclonic seizures with VPA, LEV, CZP, and TPM were reported as monotherapies in 17 MERRF patients from Qilu Hospital between 2003 and 2016, who were diagnosed through clinical data and genetic testing. After 1-4 months of follow-up (mean: 82.9 ± 28.1 days), 12 patients that exhibited poor responses to monotherapy were given a combined treatment consisting of LEV and CZP subsequently. The follow-up period was 4-144 months (mean: 66.3 ± 45.3 months), the effective rates of monotherapy group (17 patients) and combination therapy group (12 patients) were analyzed by Chi-square test.</p><p><b>Results</b>The m.8344 A>G mutation was detected in all patients. There were four patients with partial response (4/17, two in the CZP group and two in the LEV group), ten patients with stable disease (10/17, six in the CZP group, three in the LEV group, and one in the TPM group), and three patients with progressive disease (3/18, two in the VPA group and one in the TPM group). Twelve of the patients with LEV combined with CZP showed a positive effect and good tolerance (12/12), eight of them demonstrated improved cognition and coordination. There was a significant difference between the monotherapy group and combination therapy group in the efficacy of antimyoclonic seizures (χ = 13.7, P < 0.001).</p><p><b>Conclusions</b>LEV in combination with CZP is an efficient and safe treatment for myoclonic seizures in patients with this disease exhibiting the m.8344A>G mutation.</p>